Wilson's disease is a genetic disorder, which is fatal unless early detected and treated. It is a rare condition, where excess copper builds up in the body causing copper poisoning. Wilson's disease is quite uncommon and affects 1 in 30,000 people. It is named after Dr Samual Wilson, who first described the disorder in 1912.
Copper is a ?trace metal,? which is found in many foods. Some amount of copper intake is necessarily required to remain healthy. Normally, the body automatically gets rid of the excess copper, but a person suffering from Wilson disease is not able to naturally excrete the excess copper. This result in gradual deposition of the excess copper in the vital organs such as the liver, brain, cornea and kidneys ? and if not treated on time, can prove to be potentially fatal.
Generally, the first part of the body to be affected by copper deposits is the liver. In about half of Wilson's disease suffering patients, the liver is the only affected organ. Too much copper in the liver cells (the hepatocytes) is harmful and leads to liver damage.
Excess copper also damages the brain tissue in an area called the lenticular nucleus. Hence, Wilson's disease is also called ?Hepato-lenticular Degeneration?. If left untreated, the damage may become severe and eventually fatal.
What is the cause of Wilson's disease?
The basic underlying deficiency in Wilson disease is not known. It may be related to the body's inability to produce sufficient levels of ceruloplasmin, an enzyme in the fluid portion of the blood that binds to copper and is involved in its transport and regulation. Other scientists believe that reduced production of ceruloplasmin may be the result of a defect in the liver's ability to break down copper. The correlation between reduced ceruloplasmin levels and excessive copper accumulation is not fully understood. In addition, there is also evidence of impaired excretion of copper by the biliary system.
How does one get Wilson's Disease?
Wilson's disease is quite a rare disease. It is mostly genetically related; therefore, most people inherit it from their parents. It is also quite possible for the mutation to occur spontaneously. One out of 40,000 people inherit Wilson's disease from their parents, and 1/120,000 (one out of four Wilson's disease sufferers) get the disease from a spontaneous mutation.
What are the problems related to Wilson's disease?
Although the genetic defect is already present at birth, it takes years for the excess copper to build up to the toxic level where it is fatally damaging.
Symptoms of the disease typically start to develop between the ages of 6 and 20, most commonly in the teenage years. However, you can also develop symptoms in middle age.
The most characteristic sign of this disease is the Kayser-Fleischer ring - a rusty brown ring around the cornea of the eye that can be seen only through an eye exam. Other signs depend on whether the damage occurs in the liver, blood, central nervous system, urinary system, or the musculoskeletal system.
1. Liver problems ?
Symptoms of liver disorders often are the first to develop. The toxic effect on the liver cells can cause hepatitis (inflammation of the liver) leading jaundice, abdominal pain and vomiting. If left untreated, damage to liver cells can cause scarring of the liver (cirrhosis). Eventually severe cirrhosis and liver failure develop in untreated cases causing severe problems.
2. Brain problems ?
As copper gets deposited in the brain, it can cause various symptoms:
?Physical symptoms such as an odd type of tremor in the arms, slowness of movement, difficulty with speech (dysphagia), writing problems, difficulty swallowing, a wobbly gait, headaches, seizures.
?Psychological symptoms such as depression, mood swings, bizarre and inappropriate behaviour, depression accompanied by suicidal thoughts, neurosis, or psychosis, inability to concentrate. Affected people may become very aggressive and sentimental; and may exhibit a ?change in personality.? If Wilson's disease is left untreated, the accumulation of copper in the brain can lead to severe problems such as severe muscular weakness, stiffness in the body, and dementia.
3. Other problems ?
Copper may build up in the cornea of the eye. This causes a characteristic feature called Kayser-Fleischer rings - a brownish pigmentation of the cornea. Other features that may develop include anaemia, kidney damage, heart problems, pancreatitis (inflammation of the pancreas), menstrual problems and repeated miscarriage in women, and premature osteoporosis (thinning of the bones). Wilson's disease is diagnosed with tests that measure the amount of copper in the blood, urine, and liver.
How is Wilson's disease diagnosed?
If Wilson's disease is suspected, it is diagnosed by tests such as -
?A blood test to measure ceruloplasmin - a protein that binds copper in the bloodstream.
?A urine test to measure the amount of copper in the urine.
?An examination of the cornea may show the Kayser-Fleischer rings if they have developed.
?A biopsy of the liver
If Wilson's disease gets confirmed in a person, then brothers and sisters should also be tested to see if they have the condition. Siblings of a person with Wilson's disease have a 1/ 4 chance of having the condition.
Is there a cure for Wilson's Disease?
Cure for Wilson's disease involves a liver transplant, which is performed if necessary to save the person's life. The person will still have the genetic defect, and initial damage to the nervous system will not go, but may improve.
How is Wilson's disease treated?
The goal of drug therapy in individuals with Wilson disease is to remove excess copper from the body and prevent ongoing copper accumulation and deposition. Therefore, drug therapy must be continued throughout life. The earlier treatment is started, the better the chance of preventing long-term permanent damage to the liver or brain.
It affects approximately 1 in 1500 people, affecting slightly more women than men with the age group predominantly affected by Crohns Disease being more affected.
Crohns Disease is also a chronic disease which means that it is persistent. Once you have it, you will always have it. The symptoms may vary over time in their severity.
What Causes Crohns Disease It is now known exactly causes Crohns Disease. There appears to be enough evidence that it could possibly be inherited as about 1 in 10 sufferers have a relative who has also suffered from this condition. The evidence isn't absolute, but of certain degree to be significant.
It is possible that some people may be genetically predisposed to suffer from Crohns Disease although it needs some kind of germ to trigger it. The theory is that the germ triggers the immune system to cause inflammation of the gut. Interestingly, Crohns disease has become more common in recent times. The reason for this is unknown, however, smokers and women who use a combined contraceptive pill are at higher risk.
The Symptoms of Crohns Disease The symptoms of Crohns Disease are different dependant upon which part of the gut is affected and to what degree. The pain is normally located in the area where the inflammation is. Using the example of the inflammation being in the ileum, then the area of pain would be on the lower right side of the abdomen. Ulcers may develop which affect the raw area of the lining of the gut. Diarrhoea may be mixed with mucus or blood. What is common is the feeling of wanting to go to the toilet but when you get there, of not having anything to pass. Some general feeling of being unwell with a loss of appetite, fever and tiredness. If you lose a lot of blood, then you may suffer from anemia Mouth ulcers are common Painful cracks in the skin of the anus called anal fissures.
Treatment of Crohns Disease As we don't know the cause of Crohns Disease, it is only possible to treat the symptoms. Some common treatments are as follows.
Drugs can be given which will firm up the stools. Antibiotics can be given to fight any infection Acute inflammation is normally treated via application directly up the back passage using various drugs such as corticosteriods. There may be some surgery required to fix damaged portions of the bowel or to remove obstructions. The problems with surgery though is that it normally causes the Crohns Disease to flare up again.
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